Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

Autor: Irene M. Leigh, B M Daly, N. A. Alam, M S Lewis-Jones, S P MacDonald-Hull, Patrick J. Pollard, N Hardwick, Ian Tomlinson, Eduardo Calonje, Simon E. Olpin, Ella Barclay, S Jablonska, Philip Bowers, E D A Potts, Stewart Fleming, Alastair A. Macdonald, S E Hadfield-Jones, Nigel Burrows, Andrew Rowan, Robert G. Mann, Noel C. Wortham, David P. Kelsell, P J Morrison, G P Ford, A S Highet, F Camacho-Martinez, M Crone, S. M. Wilkinson, Sanjiv Manek, J P Tyrer, R Charles-Holmes, M. Mitchell, R. Ratnavel, H McGrath, L C Fuller, G Guillet, M Keefe, K Grice, L J Cook, Shamima Rahman, S J Adams, D C Seukeran

Publikováno v: Human Molecular Genetics. 12:1241-1252

Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple cutaneous and uterine leiomyomatosis (MCUL). We have previously reported a numbe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebc28511892a4a2970e3f6037d7850d5
https://doi.org/10.1093/hmg/ddg148

Progression of IgA gammopathy to myeloma following infliximab treatment for pyoderma gangrenosum

Autor: M. S. Shareef, R. G. Owen, A. S. Highet, L. R. Munro

Publikováno v: Clinical and Experimental Dermatology. 37:146-148

Pyoderma gangrenosum (PG) may be associated with inflammatory disorders and haematological conditions such as monoclonal gammopathy of uncertain significance (MGUS). We report the case of a 53-year old man who had PG and MGUS. After treatment with in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b4ea2dd8672d0e508b23cdd683b50031
https://doi.org/10.1111/j.1365-2230.2011.04219.x

The approach of dermatologists in the UK to the treatment of bullous pemphigoid: results of a national survey

Autor: V.A. Venning, M F Mohd Mustapa, A. S. Highet, K. Taghipour, Gudula Kirtschig

Publikováno v: Clinical and Experimental Dermatology, 38(3), 311-313. Wiley-Blackwell
Taghipour, K, Mustapa, M F M, Highet, A S, Venning, V A & Kirtschig, G 2013, ' The approach of dermatologists in the UK to the treatment of bullous pemphigoid: results of a national survey ', Clinical and Experimental Dermatology, vol. 38, no. 3, pp. 311-313 . https://doi.org/10.1111/ced.12042

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9a11343e46b6a041cffd74265c91bd
https://research.vumc.nl/en/publications/4334396a-8a73-4311-9d88-be0a6154630e

Acute haemorrhagic oedema in a 5-year-old boy

Autor: V M, Smith, A S, Highet

Publikováno v: Clinical and experimental dermatology. 38(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ef77bff1d34cab916fcd0f2f571370d2
https://pubmed.ncbi.nlm.nih.gov/22731924

Nicorandil-induced leg ulceration without mucosal involvement

Autor: J, Mikeljevic, A S, Highet

Publikováno v: Clinical and experimental dermatology. 36(4)

We report a case of leg ulceration occurring in a patient without mucosal ulcers, in whom nicorandil appeared to be the main aetiological factor. Having failed to heal on compression therapy, the ulcer rapidly improved and healed after the discontinu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e96f67f091f687fde7443063dffd9a50
https://pubmed.ncbi.nlm.nih.gov/23083409